Results 71 to 80 of about 42,285 (306)

The Facial Palsies [PDF]

JAMA: The Journal of the American Medical Association, 1981
The authors of The Facial Palsies present a compendium of current knowledge and practice with a large bibliography and numerous figures. Fifteen of the 19 chapters are by J. Moldaver, who stresses electrodiagnostic tests. The large number of test figures may delight the technician, but have questionable relevance to the clinician.
openaire   +2 more sources

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

‘Turkeys Cannot Vote for Christmas’: Why Epistemic Disobedience in an Anti‐Black World Matters

Australian Journal of Social Issues, EarlyView.
ABSTRACT Never in the history of global coloniality has the idea of epistemic disobedience been as important as in the 21st century. This is not only because the struggle for decolonisation has shifted from physical confrontation between the coloniser and the colonised into a battle of ideas but also because the former has deployed the idea of ...
Morgan Ndlovu
wiley   +1 more source

Acoustic Reflex and House-Brackmann Rating Scale as Prognostic Indicators of Peripheral Facial Palsy in Neuroborreliosis

Acta Clinica Croatica, 2017
Lyme borreliosis is a vector-borne infectious disease characterized by three disease stages. In the areas endemic for borreliosis, every acute facial palsy indicates serologic testing and implies specifi c approach to the disease.
Alen Sekelj, Davorin Đanić
doaj   +1 more source

Equine models in translational medicine: A comparative approach to human health

Animal Models and Experimental Medicine, EarlyView.
This diagram summarizes and contrasts rodent and equine models, outlining their strengths, limitations, and applications. Horses offer naturally occurring diseases, genetic and physiological similarities to humans, and suitability for longitudinal and clinical‐scale studies.
Shayan Boozarjomehri Amnieh, Katarzyna Ropka‐Molik   +1 more
wiley   +1 more source

Moving beyond neurophobia to cultivate the neuroquisitive learner

Anatomical Sciences Education, EarlyView.
Abstract “Neurophobia,” a pervasive fear of the neurological sciences, poses a significant barrier in medical education, affecting learners and physicians worldwide. Its consequences are far‐reaching, contributing to a limited neurology workforce and diminished confidence among non‐specialists in managing neurological conditions.
Joanna R. Appel, Kirsten A. Porter‐Stransky   +1 more
wiley   +1 more source

The Effectiveness of Acceptance and Commitment Therapy Group Intervention (Navigator ACT) for Parents of Children With Neurodevelopmental Disabilities: A Randomized Controlled Trial

Autism Research, EarlyView.
ABSTRACT High levels of parental stress and psychological inflexibility are common among caregivers raising children with neurodevelopmental disabilities. Navigator ACT is a group‐based treatment developed to increase psychological flexibility and reduce the impact of stress among parents of children with various disabilities (e.g., autism spectrum ...
T. Holmberg Bergman, P. Lappalainen, A. Ghaderi, T. Hirvikoski   +3 more
wiley   +1 more source

Cost‐utility analysis of nusinersen–risdiplam switch in patients with spinal muscular atrophy in Croatia: A discrete event simulation model

British Journal of Clinical Pharmacology, EarlyView.
Introduction In recent years, the treatment of spinal muscular atrophy (SMA), a rare disease, has significantly progressed, improving patients' survival and overall quality of life. However, current SMA treatments are expensive, and some (nusinersen) are very inconvenient for patients.
Andrej Belančić, Ivana Stević, Elvira Meni Maria Gkrinia, Dinko Vitezić, Slobodan Janković   +4 more
wiley   +1 more source

Immediate Postoperative Bell's Palsy: Viral Etiology or Post-Traumatic Phenomena?

Dental Hypotheses, 2010
Introduction: Bell’s palsy is a sudden unilateral paralysis of the facial nerve. Postoperative Bell’s palsy following surgery is rare. It occurs in less than 1% of operations. The hypothesis: We premise that the main cause of immediate postoperative Bell'
Mohammad Ghasem Shams, Mohammad Hosein Kalantar Motamedi, Ahmad Sadidi   +2 more
doaj